617752.1

Country

United Arab Emirates

HPO Terms

Intellectual disability; Delayed speech and language development; Autistic behavior; Motor delay; Obesity; Narrow palpebral fissure; Downturned corners of mouth; Wide mouth; Epicanthus; Spindle-shaped finger

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004238.1:c.2979dup	1		Clark-Baraitser Syndrome

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Remarks

Variant is de novo

References

Zhang et al. 2017